Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis

Clinical Genetics

Volumn 84, Issue 4, 2013, Pages 340-341

  Lee, J W ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; NOTCH3 RECEPTOR; PLATELET DERIVED GROWTH FACTOR BETA RECEPTOR; PROTEIN TYROSINE KINASE;

ABDOMINAL WALL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CLINICAL ARTICLE; FAMILY STUDY; GENE MUTATION; HUMAN; INFANT; INFANT DISEASE; INFANTILE MYOFIBROMATOSIS; LEIOMYOMA; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RNA SEQUENCE;

FEMALE; GENES, DOMINANT; HUMANS; MALE; MUTATION, MISSENSE; MYOFIBROMATOSIS; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR BETA;

EID: 84883765320     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12238     Document Type: Article

References (2)

1. Jin S, Hansson EM, Tikka S et al. Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells. Circ Res 2008: 102: 1483-1491.
2. Andrae J, Gallini R, Betsholtz C. Role of platelet-derived growth factors in physiology and medicine. Genes Dev 2008: 22 (10): 1276-1312.